Several advances in molecular genetics and cardiac imaging of patients with hypertrophic cardiomyopathy (HCM) have been developed in recent years. The commercially available genetic testing is currently used (a) to identify affected relatives in families known to have HCM and (b) to differentiate HCM from metabolic storage disorders and other HCM phenocopies. Cardiovascular magnetic resonance has emerged as a useful tool to assess the magnitude and distribution of hypertrophy or mitral valve apparatus anatomy, which may have an impact on decision making regarding invasive management of HCM.